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ATM c.1288T>G ;(p.C430G)
Variant ID: 11-108121480-T-G
NM_000051.3(
ATM
):c.1288T>G;(p.C430G)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
eVIDENCE: a practical variant filtering for low-frequency variants detection in cell-free DNA.
Scientific Reports
Mizuno, Kei K; Akamatsu, Shusuke S; Sumiyoshi, Takayuki T; Wong, Jing Hao JH; Fujita, Masashi M; Maejima, Kazuaki K; Nakano, Kaoru K; Ono, Atushi A; Aikata, Hiroshi H; Ueno, Masaki M; Hayami, Shinya S; Yamaue, Hiroki H; Chayama, Kazuaki K; Inoue, Takahiro T; Ogawa, Osamu O; Nakagawa, Hidewaki H; Fujimoto, Akihiro A
Publication Date: 2019-10-22
Variant appearance in text: ATM: C430G
PubMed Link:
31641155
Variant Present in the following documents:
Main text
41598_2019_Article_51459.pdf
41598_2019_51459_MOESM2_ESM.xlsx, sheet 4
41598_2019_51459_MOESM1_ESM.pdf
View BVdb publication page